Canonical Allele Identifier: CA2659654002
Gene: BOLA3 HGNC NCBI

Linked Data

gnomAD v4: 2-74145134-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.74145134T>G , CM000664.2:g.74145134T>G GRCh38
NC_000002.11:g.74372261T>G , CM000664.1:g.74372261T>G GRCh37
NC_000002.10:g.74225769T>G NCBI36
NG_031910.1:g.7779A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000327428.10:c.169+55A>C MANE Select ENSP00000331369.5:n.169+55A>C
ENST00000295326.4:c.169+55A>C ENSP00000295326.4:n.169+55A>C
ENST00000327428.9:c.169+55A>C ENSP00000331369.5:n.169+55A>C
ENST00000469676.1:n.1192+55A>C
ENST00000477685.5:n.320+55A>C
ENST00000484655.1:n.2724+55A>C
NM_001035505.1:c.169+55A>C NP_001030582.1:n.169+55A>C
NM_212552.2:c.169+55A>C NP_997717.2:n.169+55A>C
NM_212552.3:c.169+55A>C MANE Select NP_997717.2:n.169+55A>C
NM_001035505.2:c.169+55A>C NP_001030582.1:n.169+55A>C
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